Trouble always comes in threes: three mutations for three auto inflammatory genes in a child and in his father

نویسندگان

  • Maria Cristina Maggio
  • Carmelo Fabiano
  • Eugenia Prinzi
  • Giovanni Corsello
چکیده

Methods We report the clinical case of a 4 years old child who presented arthralgia since the age of 2,5 years. An orthopaedic diagnosed them as “growing pain”. Some months later he presented fever, neutrophilic leucocytosis, significant elevation of CRP and ESR associated to legs pain; he was treated with antibiotics and NSAID with a poor response. In the last year these episodes were monthly recurrent, associated with abdominal pain, oral aphtae, exanthema, conjunctivitis. The attacks are 3-4 sometimes 7 days long, have a monthly recurrence and do not show a seasonal prevalence. He showed a weight loss (weight: -2SDS; height: -1SDS); in the free intervals he was in wellbeing.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Screening for Causative Mutations of Major Prolificacy Genes in Iranian Fat-Tailed Sheep

Objective The presence of different missense mutations in sheep breeds have shown that the bone morphogenetic protein receptor 1B (BMPR1B), bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes play a vital role in ovulation rate and prolificacy in ewes. Therefore, the present study investigates BMPR1B, BMP15 and GDF9 genes mutations in prolific ewes of Iranian ...

متن کامل

God and Man in Freudian Psychoanalysis: A Critical Examination of Freud’s The Future of an Illusion

In this article, we have attempted to scrutinize Freud’s psychological analysis of man and God. Four different interpretations of this Freudian analysis have been examined hereunder. Freud believes that religion is the outcome of wishful thinking or fear. Freud’s views on the origin of religion have been stated in a detailed fashion in his works on psychoanalysis. His The Future of an Illus...

متن کامل

بررسی فراوانی ناقلین سه جهش شایع ژن G6PD در نوزادان متولد استان مازندران، سال 1391

 Background: Affecting more than 400 million people worldwide, glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is the most common enzymopathy in the world. In Northern provinces of Iran high rates of incidence of the disease have been reported (8.7% to16.4% of the whole population) and most of these patients carry one of the three common G6PD gene mutations: Mediterranean, C...

متن کامل

Comparison of Promoter Sequences of Flowering Control Genes, FT1 and Three Versions of VIN3, in Susceptible and Resistant Sugar Beet Genotypes to Bolting

Autumn sowing of sugar beet is a suitable way in sustainable agriculture. Bolting is an undesirable phenomenon which reduces sugar beet yield and it is the most important limiting factor in autumn sowing of sugar beet. Identification and comparison of the sequence of flowering genes in various genotypes can help to understand the molecular mechanisms controlling bolting. In the previous studies...

متن کامل

Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 12  شماره 

صفحات  -

تاریخ انتشار 2014